Canonical Allele Identifier: CA414815418
Gene: MT-ND5 HGNC NCBI

Linked Data

ClinVar Variation Id: 693497
ClinVar RCV Id: RCV000854870
dbSNP Id: rs386829168
MyVariant Identifiers: chrMT:g.12904A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12904A>G , J01415.2:m.12904A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361567.2:c.568A>G ENSP00000354813.2:p.Ile190Val